nsv470284
- Organism: Homo sapiens
- Study:nstd30 (Jakobsson et al. 2008)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:NCBI36 (hg18)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:447,593
- Description:Single-copy duplication
- Publication(s):Jakobsson et al. 2008
Source: NCBI
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 3915 SVs from 91 studies. See in: genome view
Overlapping variant regions from other studies: 3915 SVs from 91 studies. See in: genome view
Overlapping variant regions from other studies: 1214 SVs from 25 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv470284 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000012.12 | Chr12 | 37,539,652 | 37,987,244 |
| nsv470284 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000012.11 | Chr12 | 37,933,454 | 38,381,046 |
| nsv470284 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000012.10 | Chr12 | 36,219,721 | 36,667,313 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Copy number | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| nssv546935 | copy number gain | HGDP00619 | SNP array | SNP genotyping analysis | 3 | nssv547322, nssv544548 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv546935 | Remapped | Perfect | NC_000012.12:g.(?_ 37539652)_(3798724 4_?)dup | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 37,539,652 | 37,987,244 |
| nssv546935 | Remapped | Perfect | NC_000012.11:g.(?_ 37933454)_(3838104 6_?)dup | GRCh37.p13 | First Pass | NC_000012.11 | Chr12 | 37,933,454 | 38,381,046 |
| nssv546935 | Submitted genomic | NC_000012.10:g.(?_ 36219721)_(3666731 3_?)dup | NCBI36 (hg18) | NC_000012.10 | Chr12 | 36,219,721 | 36,667,313 |